nsv7076267
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,553
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 186 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 182 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7076267 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 49,982,758 | 50,002,310 | ||
| nsv7076267 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 50,004,294 | 50,023,849 |
| nsv7076267 | Remapped | Good | GRCh37.p13 | PATCHES | First Pass | NW_003571045.1 | Chr11|NW_0 03571045.1 | 141,644 | 161,191 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18744317 | inversion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18744317 | Submitted genomic | NC_000011.10:g.499 82758_50002310inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,982,758 | 50,002,310 | ||
| nssv18744317 | Remapped | Good | NW_003571045.1:g.1 41644_161191inv | GRCh37.p13 | First Pass | NW_003571045.1 | Chr11|NW_0 03571045.1 | 141,644 | 161,191 |
| nssv18744317 | Remapped | Good | NC_000011.9:g.5000 4294_50023849inv | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 50,004,294 | 50,023,849 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18744317 | 1.4e-05 | 4 | 275024 |